Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

Primary Familial Brain Calcification (PFBC), a neurodegenerative disease characterized by progressive pericapillary calcifications, has recently been linked to heterozygous mutations in PDGFB and PDGFRB genes. Here, we functionally analyzed several of these mutations in vitro. All six analyzed PDGFB...

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Detalles Bibliográficos
Autores principales: Vanlandewijck, Michael, Lebouvier, Thibaud, Andaloussi Mäe, Maarja, Nahar, Khayrun, Hornemann, Simone, Kenkel, David, Cunha, Sara I., Lennartsson, Johan, Boss, Andreas, Heldin, Carl-Henrik, Keller, Annika, Betsholtz, Christer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658112/
https://www.ncbi.nlm.nih.gov/pubmed/26599395
http://dx.doi.org/10.1371/journal.pone.0143407

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